Evidence map›Paper›PMID 42079835›Full record

ArticleFrontiers in neurology

Peripheral blood transcriptomics identifies cohesin-chromatin and immune dysregulation in tics and Tourette syndrome.

Shrujna Patel, Velda X Han, Brooke A Keating, Hiroya Nishida, Jessica P Hayes, Erica Tsang, Nader Aryamanesh, Lee L Marshall, Shekeeb S Mohammad, Russell C Dale

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Article in Frontiers in neurology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Shrujna PatelKids Neuroscience Center, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Velda X HanKids Neuroscience Center, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Brooke A KeatingKids Neuroscience Center, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Hiroya NishidaKids Neuroscience Center, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Jessica P HayesKids Neuroscience Center, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Erica TsangKids Neuroscience Center, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Nader AryamaneshBioinformatics Group, Children's Medical Research Institute, University of Sydney, Westmead, Sydney, NSW, Australia.
Lee L MarshallBioinformatics Group, Children's Medical Research Institute, University of Sydney, Westmead, Sydney, NSW, Australia.
Shekeeb S MohammadKids Neuroscience Center, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Russell C DaleKids Neuroscience Center, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Tic disorders and Tourette syndrome are neurodevelopmental disorders arising from interplay between genetic and environmental factors. Gene regulation, via chromatin and other epigenetic mechanisms, may provide a key link between gene-environment interactions, yet remains under-investigated in tic disorders. Methods: We performed bulk RNA sequencing of peripheral blood from 28 children with tic disorders (19 with Tourette syndrome, aged 6-16, median age 10 years, 18 (64%) males) compared to 20 matched healthy controls (aged 1-25, median age 11 years, 13 (65%) males). Differentially expressed genes (DEGs) were identified following false discovery rate (FDR) correction, and pathway enrichment was analyzed using Gene Set Enrichment Analysis (GSEA) based on Gene Ontology (GO) and Reactome databases. To assess convergence between peripheral and brain molecular changes, DEGs were compared with published post-mortem brain transcriptomic data from individuals with Tourette syndrome. Results: A total of 4,169 DEGs (FDR < 0.05) were identified in blood transcriptomic analysis, with 2,192 upregulated and 1,977 genes. The blood transcriptomic findings included upregulation of chromatin- and cohesin-related pathways, immune activation, and cell signaling, and downregulation of translational machinery, mitochondrial function, and DNA methylation. Comparison with post-mortem brain transcriptomic data revealed 30 overlapping genes, including 20 that were concordantly upregulated in both blood and brain, predominantly associated with immune, signaling, and cellular stress responses. Discussion: Our data points to gene regulation and chromatin biology as a nexus where genetic risk and environmental exposures converge in tic disorders and related neurodevelopmental disorders, and highlight epigenetic and immune-targeting therapies as promising avenues for disease modification.

Indexed as

chromatinepigeneticneurodevelopmental disordersOCD (obsessive-compulsive disorder)RNA sequencing

Identifiers

PMID42079835
PMCPMC13130223

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.